Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R308*
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EYA1

NM_000503.6:p.R308*

Associated Papers

CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.

Yi H et al.

Molecular Therapy. Nucleic Acids, 2024

38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M et al.

Scientific Reports, 2019

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A et al.

International Journal of Pediatric Otorhinolaryngology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."